Variant report

Variant	rs13319151
Chromosome Location	chr3:119616738-119616739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119615199..119618060-chr3:119644767..119646419,2	K562	blood:
2	chr3:119616073..119619196-chr3:119813020..119814787,3	MCF-7	breast:
3	chr3:119615796..119618399-chr3:119620794..119623465,2	K562	blood:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12330290	0.80[AFR][1000 genomes]
rs12330358	0.92[AFR][1000 genomes]
rs12330670	0.92[AFR][1000 genomes]
rs13315412	1.00[AFR][1000 genomes]
rs13316265	0.92[AFR][1000 genomes]
rs13319559	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13319825	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13323804	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28366921	0.84[AFR][1000 genomes]
rs28481299	0.92[AFR][1000 genomes]
rs28540006	0.92[AFR][1000 genomes]
rs28709836	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs28817295	1.00[AFR][1000 genomes]
rs6769820	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6772172	0.87[YRI][hapmap];1.00[AFR][1000 genomes]
rs6778773	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6796719	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7639665	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7639675	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9289137	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9289139	0.96[AFR][1000 genomes]
rs9810851	1.00[AFR][1000 genomes]
rs9816765	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9816864	1.00[AFR][1000 genomes]
rs9819836	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9825770	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9826355	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9831646	1.00[YRI][hapmap]
rs9835672	1.00[AFR][1000 genomes]
rs9836177	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9836325	1.00[AFR][1000 genomes]
rs9837710	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9840111	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9841959	1.00[AFR][1000 genomes]
rs9842216	1.00[AFR][1000 genomes]
rs9842542	1.00[AFR][1000 genomes]
rs9843873	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9852118	1.00[AFR][1000 genomes]
rs9852797	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9854117	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9857139	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9857548	1.00[AFR][1000 genomes]
rs9858471	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9861481	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9862099	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9864153	1.00[AFR][1000 genomes]
rs9869296	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9871701	1.00[AFR][1000 genomes]
rs9871925	1.00[AFR][1000 genomes]
rs9872693	1.00[AFR][1000 genomes]
rs9874110	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9880833	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9881985	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119569400-119629400	Weak transcription	Esophagus	oesophagus
3	chr3:119574600-119631600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:119582400-119624000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:119582400-119626600	Weak transcription	Fetal Heart	heart
6	chr3:119582400-119629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:119582600-119627200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:119582600-119627400	Weak transcription	Right Ventricle	heart
9	chr3:119582800-119621200	Weak transcription	Fetal Intestine Large	intestine
10	chr3:119583600-119621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:119583800-119630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:119584000-119622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:119592600-119617800	Weak transcription	Osteobl	bone
14	chr3:119597600-119659000	Weak transcription	Gastric	stomach
15	chr3:119603400-119624200	Weak transcription	Hela-S3	cervix
16	chr3:119603600-119624200	Weak transcription	HepG2	liver
17	chr3:119604800-119627800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:119608000-119621600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:119608000-119627800	Weak transcription	Left Ventricle	heart
20	chr3:119608000-119643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:119608200-119617800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:119608200-119621200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:119608200-119621400	Weak transcription	Placenta	Placenta
24	chr3:119608200-119627400	Weak transcription	Thymus	Thymus
25	chr3:119608200-119639200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:119608400-119617000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:119608400-119617800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:119608400-119629800	Weak transcription	Fetal Brain Female	brain
30	chr3:119608600-119616800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:119608600-119619400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:119608600-119621200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr3:119608600-119622800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:119608600-119629200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:119608600-119630000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:119608600-119630000	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:119608800-119629800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:119609000-119616800	Weak transcription	Primary T cells from cord blood	blood
39	chr3:119609000-119617000	Weak transcription	Primary B cells from cord blood	blood
40	chr3:119609000-119629600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:119609200-119630000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:119609400-119617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:119609600-119619400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:119611200-119617800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:119611200-119617800	Weak transcription	Adipose Nuclei	Adipose
46	chr3:119611200-119617800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr3:119611200-119623400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr3:119611200-119624000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:119611200-119630200	Weak transcription	Psoas Muscle	Psoas
50	chr3:119611200-119643400	Weak transcription	H9 Cell Line	embryonic stem cell

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